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Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome / L. JOSEPH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. JOSEPH, Auteur ; C. FARMER, Auteur ; C. CHLEBOWSKI, Auteur ; L. HENRY, Auteur ; A. FISH, Auteur ; C. MANKIW, Auteur ; A. XENOPHONTOS, Auteur ; L. CLASEN, Auteur ; B. SAULS, Auteur ; J. SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; E. TORRES, Auteur ; A. THURM, Auteur ; A. RAZNAHAN, Auteur Année de publication : 2018 Article en page(s) : 30 p. Langues : Anglais (eng) Mots-clés : Adaptive behavior Autism spectrum disorder symptoms Cognitive functioning Learning disabilities Sex chromosome aneuploidies Index. décimale : PER Périodiques Résumé : BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." En ligne : http://dx.doi.org/10.1186/s11689-018-9248-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p.[article] Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome [Texte imprimé et/ou numérique] / L. JOSEPH, Auteur ; C. FARMER, Auteur ; C. CHLEBOWSKI, Auteur ; L. HENRY, Auteur ; A. FISH, Auteur ; C. MANKIW, Auteur ; A. XENOPHONTOS, Auteur ; L. CLASEN, Auteur ; B. SAULS, Auteur ; J. SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; E. TORRES, Auteur ; A. THURM, Auteur ; A. RAZNAHAN, Auteur . - 2018 . - 30 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p.
Mots-clés : Adaptive behavior Autism spectrum disorder symptoms Cognitive functioning Learning disabilities Sex chromosome aneuploidies Index. décimale : PER Périodiques Résumé : BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." En ligne : http://dx.doi.org/10.1186/s11689-018-9248-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 Structure, longitudinal invariance, and stability of the Child Behavior Checklist 11/2-5's Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Disorder scale: Findings from Generation R (Rotterdam) / L. A. RESCORLA in Autism, 23-1 (January 2019)
[article]
Titre : Structure, longitudinal invariance, and stability of the Child Behavior Checklist 11/2-5's Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Disorder scale: Findings from Generation R (Rotterdam) Type de document : Texte imprimé et/ou numérique Auteurs : L. A. RESCORLA, Auteur ; A. GHASSABIAN, Auteur ; Masha Y. IVANOVA, Auteur ; Vincent W.V. JADDOE, Auteur ; F. C. VERHULST, Auteur ; H. TIEMEIER, Auteur Article en page(s) : p.223-235 Langues : Anglais (eng) Mots-clés : autism spectrum disorder symptoms Child Behavior Checklist 11/2-5 longitudinal stability measurement invariance preschoolers rating-scales identification traits population design cbcl Psychology Index. décimale : PER Périodiques Résumé : Although the Child Behavior Checklist 11/2-5's 12-item Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale (formerly called Pervasive Developmental Problems scale) has been used in several studies as an autism spectrum disorder screener, the base rate and stability of its items and its measurement model have not been previously studied. We therefore examined the structure, longitudinal invariance, and stability of the Child Behavior Checklist 11/2-5's Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale in the diverse Generation R (Rotterdam) sample based on mothers' ratings at 18 months (n = 4695), 3 years (n = 4571), and 5 years (n = 5752). Five items that seemed especially characteristic of autism spectrum disorder had low base rates at all three ages. The rank order of base rates for the 12 items was highly correlated over time (Qs > 0.86), but the longitudinal stability of individual items was modest (phi coefficients = 0.15-0.34). Confirmatory factor analyses indicated that the autism spectrum disorder scale model manifested configural, metric, and scalar longitudinal invariance over the time period from 18 months to 5 years, with large factor loadings. Correlations over time for observed autism spectrum disorder scale scores (0.25-0.50) were generally lower than the correlations across time of the latent factors (0.45-0.68). Results indicated significant associations of the autism spectrum disorder scale with later autism spectrum disorder diagnoses. En ligne : http://dx.doi.org/10.1177/1362361317736201 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379
in Autism > 23-1 (January 2019) . - p.223-235[article] Structure, longitudinal invariance, and stability of the Child Behavior Checklist 11/2-5's Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Disorder scale: Findings from Generation R (Rotterdam) [Texte imprimé et/ou numérique] / L. A. RESCORLA, Auteur ; A. GHASSABIAN, Auteur ; Masha Y. IVANOVA, Auteur ; Vincent W.V. JADDOE, Auteur ; F. C. VERHULST, Auteur ; H. TIEMEIER, Auteur . - p.223-235.
Langues : Anglais (eng)
in Autism > 23-1 (January 2019) . - p.223-235
Mots-clés : autism spectrum disorder symptoms Child Behavior Checklist 11/2-5 longitudinal stability measurement invariance preschoolers rating-scales identification traits population design cbcl Psychology Index. décimale : PER Périodiques Résumé : Although the Child Behavior Checklist 11/2-5's 12-item Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale (formerly called Pervasive Developmental Problems scale) has been used in several studies as an autism spectrum disorder screener, the base rate and stability of its items and its measurement model have not been previously studied. We therefore examined the structure, longitudinal invariance, and stability of the Child Behavior Checklist 11/2-5's Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale in the diverse Generation R (Rotterdam) sample based on mothers' ratings at 18 months (n = 4695), 3 years (n = 4571), and 5 years (n = 5752). Five items that seemed especially characteristic of autism spectrum disorder had low base rates at all three ages. The rank order of base rates for the 12 items was highly correlated over time (Qs > 0.86), but the longitudinal stability of individual items was modest (phi coefficients = 0.15-0.34). Confirmatory factor analyses indicated that the autism spectrum disorder scale model manifested configural, metric, and scalar longitudinal invariance over the time period from 18 months to 5 years, with large factor loadings. Correlations over time for observed autism spectrum disorder scale scores (0.25-0.50) were generally lower than the correlations across time of the latent factors (0.45-0.68). Results indicated significant associations of the autism spectrum disorder scale with later autism spectrum disorder diagnoses. En ligne : http://dx.doi.org/10.1177/1362361317736201 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379 The Effect of Gestational Age on Symptom Severity in Children with Autism Spectrum Disorder / Tammy MOVSAS in Journal of Autism and Developmental Disorders, 42-11 (November 2012)
[article]
Titre : The Effect of Gestational Age on Symptom Severity in Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Tammy MOVSAS, Auteur ; Nigel PANETH, Auteur Année de publication : 2012 Article en page(s) : p.2431-2439 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder symptoms Preterm Post-term Post-mature SCQ SRS Index. décimale : PER Périodiques Résumé : Between 2006 and 2010, two research-validated instruments, Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) were filled out online by 4,188 mothers of Autism Spectrum Disorder (ASD) children, aged 4–21, as part of voluntary parental participation in a large web-based registry. Univariate and multivariate linear regression analysis (adjusted for child’s sex, ability to verbalize, categorical IQ score, and fetal growth rate) demonstrated significantly higher SCQ and SRS scores for ASD children of both preterm (<37 weeks) and post-term (>42 weeks) gestational age (GA) compared to ASD children of normal GA, thus indicating that both preterm and post-term children manifest increased ASD symptomatology. Normal GA at birth appears to mitigate the severity of autistic social impairment in ASD children. En ligne : http://dx.doi.org/10.1007/s10803-012-1501-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183
in Journal of Autism and Developmental Disorders > 42-11 (November 2012) . - p.2431-2439[article] The Effect of Gestational Age on Symptom Severity in Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Tammy MOVSAS, Auteur ; Nigel PANETH, Auteur . - 2012 . - p.2431-2439.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-11 (November 2012) . - p.2431-2439
Mots-clés : Autism Spectrum Disorder symptoms Preterm Post-term Post-mature SCQ SRS Index. décimale : PER Périodiques Résumé : Between 2006 and 2010, two research-validated instruments, Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) were filled out online by 4,188 mothers of Autism Spectrum Disorder (ASD) children, aged 4–21, as part of voluntary parental participation in a large web-based registry. Univariate and multivariate linear regression analysis (adjusted for child’s sex, ability to verbalize, categorical IQ score, and fetal growth rate) demonstrated significantly higher SCQ and SRS scores for ASD children of both preterm (<37 weeks) and post-term (>42 weeks) gestational age (GA) compared to ASD children of normal GA, thus indicating that both preterm and post-term children manifest increased ASD symptomatology. Normal GA at birth appears to mitigate the severity of autistic social impairment in ASD children. En ligne : http://dx.doi.org/10.1007/s10803-012-1501-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183